Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.T624A

KEL

327 papers

RefSeq Summary

This gene encodes a type II transmembrane glycoprotein that is the highly polymorphic Kell blood group antigen. The Kell glycoprotein links via a single disulfide bond to the XK membrane protein that ...

Pfam Domains

Peptidase_M13_Naa 99–482UCSCPeptidase family M13
Peptidase_M13aa 540–731UCSCPeptidase family M13

Gene Aliases

HGNC Name

Kell metallo-endopeptidase

HGNC Alias Symbols

ECE3; CD238

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000420.3
p.T624A
c.1870A>G
Surrounding Variants
1 paper
NM_000420.3
p.T624N
c.1871C>A
1 paper
NM_000420.3
p.R623S
c.1869A>T
1 paper
NM_000420.3
p.R623S
c.1869A>C
1 paper
NM_000420.3
p.R623I
c.1868G>T
1 paper
NM_000420.3
p.R623T
c.1868G>C
2 papers
NM_000420.3
p.R623K
c.1868G>A
1 paper
NM_000420.3
p.R623G
c.1867A>G
1 paper
NM_000420.3
p.S625F
c.1874C>T
1 paper
NM_000420.3
p.S625C
c.1874C>G
1 paper
NM_000420.3
p.S622R
c.1866C>G
1 paper
NM_000420.3
p.S625Y
c.1874C>A
1 paper
NM_000420.3
p.S622R
c.1866C>A
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